R377W (p.Arg377Trp) variant of PSEN1 (Presenilin-1)
R377W (p.Arg377Trp) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alzheimer disease 3; Frontotemporal dementia; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R377W (p.Arg377Trp) variant details
- p.Arg377Trp
- rs1555357544
- ClinGen CA390305683
- ClinVar RCV002014803
- Ensembl rs1555357544
- Pathogenic
- Alzheimer disease 3; Frontotemporal dementia; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.81
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Pathogenic (Alzheimer disease 3; Frontotemporal dementia; Acne inversa, fami)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)